Disease Information for Erythrohepatic protoporphyria

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Clinical Manifestations
Signs & Symptoms
Sun exposed areas/face, arms/involved
Red/erythema skin discoloration
Blebs/vesicles/skin
Bullous lesion/local
Cutaneous manifestations
Erythematous generalized rash
Erythroderma
Painful facial/sun-exposure rash
Photosensitivity/Sunsensitive skin
Quick onset solar/sensitivity
Rash, erythematous/Sunburn-like
Vesicobullous rashes
Disease Progression
Course/Benign course/disorder
Course/Chronic disorder
Course/Chronic only
Onset childhood/young adult/twenties
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Fluorescent reticulocytes in buffy coat (Lab)
Free erythrocyte protoporphrin/FEE test positive (Lab)
Hepatic Enzymes Abnormal (Lab)
Liver Functions Abnormal (Lab)
Transaminase elevation (Lab)
Abnormal Lab Findings - Increased
ALT (SGPT) (Alanine transferase) (Lab)
Aspartamine aminotransferase (SGOT, AST) (Lab)
AST (SGOT) (aspartamine transferase) (Lab)
Protoporphyrin RBC (Lab)
Protoporphyrin (Lab)
Protoporphyrin IX (Lab)
Zinc Protoporphyrin/RBC (Lab)
URINE Porphyrins
STOOL Protoporphyrin
STOOL Protoporphyrin IX
Diagnostic Test Results
Pathology
Bone marrow/Red fluorescent normoblasts
Associated Diseases & Rule outs
Associated Disease & Complications
Acute solar urticaria
Cholecystitis, acute
Cholelithiasis
Cholelithiasis/bilirubin gall stones
Chronic solar eczema
Erythrohepatic protoporphyria
Erythropoetic porphyria
Hepatic failure
Photosensitivity dermatitis
Phototoxicity
Disease Synergy - Causes
Synergy/Sunlight exposure
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Defect protoporphyrin ferrochelatase
Pathophysiology/Increase protoporphyrin IX/RBCs
Pathophysiology/Mixed hepatic/erythropoetic porphyria
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic porphyrin disorder (ex)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
EPP, EPP Erythropoietic protoporphyria, EPP (erythropoietic protoporphyria porphyria), EPP Erythropoietic protoporphy, Erythrohepatic protoporphyria, Erythropoietic protoporphyria, Erythropoietic protoporphyria (disorder), Erythropoietic Protoporphyrias, Haem synthase deficiency, Heme synthase deficiency, Hydroa aestivale syndrome, Magnus syndrome, Magnus' syndrome, Protoporphyria, PROTOPORPHYRIA ERYTHROPOIETIC, Protoporphyrias Erythropoietic, Synonym/EPP disease, Synonym/Protoporphyria
Treatment
Drug Therapy - Indication
RX/Beta-carotene
Other Treatments
TX/Avoid sunlight exposure
Definition
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External Links Related to Erythrohepatic protoporphyria
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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